Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02251:Esrp1'

286399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esrp1

Ensembl Gene

ENSMUSG00000040728

Gene Name

epithelial splicing regulatory protein 1

Synonyms

2210008M09Rik, Rbm35a

Accession Numbers

Genbank: NM_194055; MGI: 1917326

Is this an essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL02251

Quality Score

Status

Chromosome

Chromosomal Location

11331933-11386783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11361202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 315 (R315C)

Ref Sequence

ENSEMBL: ENSMUSP00000119598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043781] [ENSMUST00000108310] [ENSMUST00000108311] [ENSMUST00000108313] [ENSMUST00000147342] [ENSMUST00000155519]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043781
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037921
Gene: ENSMUSG00000040728
AA Change: R329C

Domain	Start	End	E-Value	Type
RRM	226	298	2.6e-2	SMART
RRM	327	402	1.75e-5	SMART
low complexity region	420	434	N/A	INTRINSIC
RRM	446	521	1.03e-2	SMART
low complexity region	542	552	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108310
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103946
Gene: ENSMUSG00000040728
AA Change: R329C

Domain	Start	End	E-Value	Type
RRM	226	298	2.6e-2	SMART
RRM	327	402	1.75e-5	SMART
low complexity region	420	434	N/A	INTRINSIC
RRM	446	521	1.03e-2	SMART
low complexity region	542	552	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108311
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103947
Gene: ENSMUSG00000040728
AA Change: R329C

Domain	Start	End	E-Value	Type
RRM	226	298	2.6e-2	SMART
RRM	327	402	1.75e-5	SMART
low complexity region	420	434	N/A	INTRINSIC
RRM	446	521	1.03e-2	SMART
low complexity region	542	556	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108313
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103949
Gene: ENSMUSG00000040728
AA Change: R329C

Domain	Start	End	E-Value	Type
RRM	226	298	2.6e-2	SMART
RRM	327	402	1.75e-5	SMART
low complexity region	420	434	N/A	INTRINSIC
RRM	446	521	1.03e-2	SMART
low complexity region	542	552	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147342
AA Change: R164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121117
Gene: ENSMUSG00000040728
AA Change: R164C

Domain	Start	End	E-Value	Type
RRM	61	133	2.6e-2	SMART
RRM	162	237	1.75e-5	SMART
low complexity region	255	269	N/A	INTRINSIC
RRM	281	356	1.03e-2	SMART
low complexity region	377	387	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155519
AA Change: R315C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119598
Gene: ENSMUSG00000040728
AA Change: R315C

Domain	Start	End	E-Value	Type
RRM	212	284	2.6e-2	SMART
RRM	313	388	1.75e-5	SMART
low complexity region	406	420	N/A	INTRINSIC
Blast:RRM	432	472	7e-20	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit hyperactivity and circling with no detectable hearing deficits. Mice homozygous for a null allele exhibit bilateral cleft lip and cleft palate, and die at P0. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,977,416	C1406R	probably damaging	Het
Acp2	T	A	2: 91,208,333		probably null	Het
Antxr2	A	C	5: 97,977,595		probably null	Het
Arhgef11	C	T	3: 87,683,547	R32C	probably damaging	Het
Armc6	A	T	8: 70,225,220	L153*	probably null	Het
Btnl2	G	T	17: 34,363,239	G260*	probably null	Het
Ccnf	A	G	17: 24,226,539	S551P	probably benign	Het
Cdh19	A	G	1: 110,954,652	S37P	probably benign	Het
Cntnap3	T	A	13: 64,762,036	T752S	probably damaging	Het
Crispld1	A	G	1: 17,728,840	M62V	probably benign	Het
Ddr1	G	A	17: 35,683,480	A801V	probably damaging	Het
Dner	G	T	1: 84,384,026	Q621K	probably damaging	Het
Dph6	A	G	2: 114,535,523		probably null	Het
Dpp3	T	G	19: 4,918,315	H243P	probably benign	Het
Eif3j2	T	A	18: 43,477,366	K127N	probably damaging	Het
Fam35a	T	C	14: 34,268,278	R224G	probably benign	Het
Gm973	A	C	1: 59,582,423	H574P	probably benign	Het
Gprasp1	G	A	X: 135,800,539	V494I	probably benign	Het
Hbb-bh1	T	A	7: 103,842,810	K66*	probably null	Het
Hoxb9	T	A	11: 96,274,825	M240K	probably damaging	Het
Irf2	T	C	8: 46,807,753		probably null	Het
Lgi4	A	G	7: 31,067,263		probably null	Het
Mylk3	C	T	8: 85,355,176	V328M	probably benign	Het
Nf2	T	C	11: 4,848,873	E38G	probably null	Het
Olfr1286	A	C	2: 111,420,312	L213R	probably damaging	Het
Olfr606	A	T	7: 103,451,771	K145*	probably null	Het
Pdpk1	A	G	17: 24,079,638	F346L	probably damaging	Het
Prex1	T	C	2: 166,577,886	Y1120C	probably damaging	Het
Rab3gap1	A	G	1: 127,937,500	T742A	probably benign	Het
Scai	A	T	2: 39,099,417	D401E	probably benign	Het
Scd1	T	C	19: 44,398,094	H298R	probably damaging	Het
Slc45a1	A	G	4: 150,638,719		probably benign	Het
Smim10l1	G	T	6: 133,105,508	R6L	probably damaging	Het
Spag5	T	G	11: 78,320,034	F921C	probably damaging	Het
Sun1	T	C	5: 139,241,431	S667P	probably damaging	Het
Tas2r124	A	G	6: 132,755,561	I278V	probably benign	Het
Thbs1	G	A	2: 118,113,518	D206N	probably benign	Het
Trim37	T	A	11: 87,167,430		probably benign	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn2r103	A	G	17: 19,793,969	N341S	possibly damaging	Het
Zmat3	A	G	3: 32,345,583		probably benign	Het

Other mutations in Esrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Esrp1	APN	4	11384374	missense	possibly damaging	0.47
IGL02669:Esrp1	APN	4	11386324	missense	possibly damaging	0.61
Barley	UTSW	4	11365205	missense	probably damaging	1.00
korn	UTSW	4	11357519	missense	probably damaging	1.00
triaka	UTSW	4	11379300	missense	probably benign	0.01
R1109:Esrp1	UTSW	4	11365205	missense	probably damaging	1.00
R1531:Esrp1	UTSW	4	11379375	missense	probably damaging	0.99
R2189:Esrp1	UTSW	4	11357603	missense	probably benign	0.04
R2255:Esrp1	UTSW	4	11365211	missense	probably damaging	0.99
R5919:Esrp1	UTSW	4	11344146	missense	probably damaging	0.96
R5924:Esrp1	UTSW	4	11361174	missense	probably damaging	1.00
R6042:Esrp1	UTSW	4	11357580	missense	possibly damaging	0.93
R6749:Esrp1	UTSW	4	11357519	missense	probably damaging	1.00
R6817:Esrp1	UTSW	4	11357552	missense	probably damaging	1.00
R7392:Esrp1	UTSW	4	11338809	missense	probably benign	0.00
R7607:Esrp1	UTSW	4	11384449	missense	probably damaging	0.99
R7985:Esrp1	UTSW	4	11367153	missense	probably benign	0.17
R8050:Esrp1	UTSW	4	11338767	missense	probably damaging	1.00
R9512:Esrp1	UTSW	4	11365449	missense	probably benign	0.44
Z1176:Esrp1	UTSW	4	11384396	missense	probably damaging	1.00
Z1176:Esrp1	UTSW	4	11385765	missense	possibly damaging	0.64

Posted On

2015-04-16